The known burden of Huntington disease in the north of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era

Georgios Kounidas* (Corresponding Author), Heather Cruickshank, Stavroula Kastora, Stella Sihlabela, Zosia Miedzybrodzka* (Corresponding Author)

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Huntington disease prevalence was first estimated in Grampian, northern Scotland in 1984. Molecular testing has since increased ascertainment. To estimate the prevalence of manifest Huntington disease and identified pre-symptomatic gene expansion carriers (IPGEC) in northern Scotland, and estimate the magnitude of biases in prevalence studies that rely upon routine coding in primary care records. Cases were ascertained using North of Scotland genetic laboratory, clinic, and hospital records. Prevalence was calculated for manifest and IPGEC on 01/07/2016 and 01/01/2020 and compared with local published data. The prevalence of manifest Huntington disease in northern Scotland in 2020 was 14.6 (95% CI 14.3-15.3) per 100,000, and of IPGEC was 8.3 (95% CI 7.8-9.2) per 100,000. Whilst the population of northern Scotland decreased by 0.05% between 2016 and 2020, the number of manifest and identified pre-symptomatic gene expansion carriers increased by 7.4% and 23.3%, respectively. Manifest disease in Grampian increased by 45.9% between 1984 and 2020. More women than men had a diagnosis. General Practice coding underestimated symptomatic molecularly confirmed prevalence by 2.2 per 100,000 people. Even in an area with previously high ascertainment, there has been a 45.9% increase in manifest Huntington disease over the last 30 years. Within our catchment area, prevalence varies between health board regions with similar community-based services. Such variation in prevalence could have major drug cost and service delivery implications, especially if expensive, complexly administered therapies prove successful. Health services should gather accurate population-based data on a regional basis to inform service planning.
Original languageEnglish
Pages (from-to)4170-4177
Number of pages8
JournalJournal of Neurology
Volume268
Early online date15 Apr 2021
DOIs
Publication statusE-pub ahead of print - 15 Apr 2021

Keywords

  • Huntington disease
  • Prevalence
  • Scotland
  • General practice

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